NEUROLOGICAL DISORDERS

Anna Kosmowska

HEDACHE

Frequent reason for older children and adolescents to consult a doctorIHS:PRIMARY H.: MIGRAINE, TENSION-TYPE HEADACHE, CLUSTER HEADACHESECONDARY H.: -HEAD OR NECK TRAUMA, -CRANIAL OR CERVICAL VASCULAR DISORDER – VASCULAR MALFORMATION OR INTRACRANIAL HAEMORRHAGE-NON-VASCULAR INTRACRANIAL DISORDER – RAISED INTRACRANIAL PRESSURE, IDIOPATHIC INTRACRANIAL HYPERTENSION-ALCOHOL, SOLVENT, DRUG ABUSE-INFECTION – MENINGITIS, ENCEPHALITIS-HYPERCAPNIA, HYPERTENSION-ACUTE SINUSITIS-PSYCHIATRIC DISORDER

TENSION-TYPE HEADACHE

Symmetrical headache of gradual onsetDescribed as tightness, a band or pressureUsually no other symptoms

MIGRAINE WITHOUT AURA

90% of migreneIn children episodes may last 1-72hBilateral or unilateralPulsatile – temporal or frontal areaAccompanied – nusea, vomiting, abdominal pain, photophobia

MIGRAINE WITH AURA

10% of migraineHeadache is preceded by an aura (visual, sensory, motor)Last for a few hours, during which time children prefer to lie down in a quiet, dark place

TRIGGERS

STRESSFOODMENSTRUATIONEMOTIONAL OR BEHAVIOURAL PROBLEMS ALCOHOL, DRUGS

HEADACHES OFTEN RAISE THE FEAR OF BRAIN TUMOURS

RED FLAG SYMPTOMS

HEADACHE – WORSE LYING DOWN OR WITH COUGHING AND STRAININGHEADACHE – WAKES UP CHILDASSOCIATED CONFUSION, MORNING OR PERSISTANT NUSEA OR VOMITINGRECENT CHANGE IN PERSONALITY, BEHAVIOUR OR EDUCATIONAL PERFORMONACE

RED FLAG PHYSICAL SIGNS – SPACE-OCCUPYING LESION

GROWTH FAILUREVISUAL FIELD DEFECTS – CRANIOPHARYNGIOMASQUINTCRANIAL NERVE ABNORMALITYTORTICOLLISABNORMAL COORDINATION – FOR CEREBELLAR SIGNSPAPILLOEDEMA OF THE SECOND CRANIAL NERVEBRADYCARDIACRANIAL BRUITS – ARTERIOVENOUS MALFORMATION

RESCUE TREATMENTS

PARACETAMOL AND NON-STEROIDAL ANTI-INFLAMANTORY DRUGS (NSAIDs)ANTI-EMETICSSEROTONIN AGONISTS e.g SUMATRIPTANBETA-BLOCKERS – PROPRANOLOLPSYCHOLOGICAL SUPPORTRELAXATION

SEIZURES

Is a clinical event in which there is a sudden disturbance of neurological fuction caused by an abnormal or excessive neuronal discharge.May by epileptic or non-epileptic.

NON-EPILEPTICFEBRILE SEIZURESMETABOLIC – HYPOGLYCAEMIA, HYPOCALCAEMIA, HYPOMAGNESAEMIA, HYPO/HYPERNATRAEMIAHEAD TRAUMAMENINGITIS / ENCEPHALITISPOISONS / TOXINS

EPILEPSY

IDIOPATHIC (70-80%) - CAUSE UNKNOWN BUT PRESUMED GENETICSECONDARY:-CEREBRAL DYSGENESSIA/MALFORMATION -CEREBRAL VASULAR OCCLUSION -CEREBRAL DAMAGE e.g congenital infection, hypoxic-ischaemic encephalopathy, intraventricular haemorrhageCEREBRAL TUMOURNEURODEGENERATIVE DISORDERSNEUROCUTANEOUS SYNDROMES

FEBRILE SEIZURES

Affect 3% of childrenHave a genetic predispositionOccure between 6 months and 6 years of ageAre usually brief, generalised tonic-clonic seizures occurring with a rapid rise in feverIf a bacterial infection, especially meningitis, is present, it needs to be identified and treatedAdvise family about management of seizures, consider rescue therapy – rectal diazepamOral prophylactic anti-epileptic drugs are not usedAn EEG is not indicatedIf simple – does not affect intellectual performance or risk of developing epilepsyIf complex, 4-12% risk of subsequent epilepsy

CHILDREN WITH PAROXYSAML DISORDERS FUNNY TURNS

BRETAH-HODING ATTACS – TEMPERREFLEX ANOXIC SEIZURES – HEAD TRAUMA, COLD FOOD, FRIGHT, FEVERSYNCOPEMIGRAINEBENIGN PROXYSMAL VERTIGOOTHER CAUSES (cardiac arrythmia, ticks, pseudoseizures)

EPILEPSIES OF CHILDHOOD

Is a chronic neurological disorder characterised by recurrent unprovoked seizures, consisting of transient signs and/or symptoms associated with abnormal, excessive or synchronous neuronal activity in the brain.

GENERALISED SEIZURES

There is always a loss o consciousnessNo warningSymmetrical seizuresBilaterally synchronous seizures discharge on EEG or varying asymmetry

ABSENCE SEIZURES

MYOCLONIC SEIZURES

TONIC SEIZURES

TONIC-CLONIC SEIZURES

ATONIC SEIZURES

FOCAL SEIZURES

Onset in neural network limited to one cerebral hemisphereBegin in relative small group of dysfunctional neurones in one of the cerebral hemispheresMay be heralded by an aura which reflects the site of originMay or may not be associated with change in consciousness or more generalised tonic-clonic seizure

FOCAL SEIZURES

FRONTAL SEIZURES – MOTOR PHENOMENATEMPORAL LOBE SEIZURES – AUDITORY OR SENSORY (SMELL OR TASTE) PHENOMENAOCCIPITAL – POSITIVE OR NEGATIVE VISUAL PHENOMENAPARIETAL LOBE SEIZURES – CONTRALATERAL ALTERED SENSATION (DYSAESTHESIA)

INVESTIGATION OF SEIZURES

EEG but …Many children with epilepsy have a normal initial EEGAnd many children who will never have epilepsy have EEG abnormalitiesEEG as add suportive evidenceStandard/ a sleep/ sleep-deprived record/ 24h-EEG/ videoEEGMRICTMetabolic investigationsGentic studies

ANTI-EPILEPTIC DRUG THERAPY(AED)

…to treat or not to terat...It is common practise not to institute treatment after a single unprovoked seizureNot all seizures require AED therapyThe decision should be based on the seizure type, frequency and social and educational consequences of seizures set against the possibility of unwanted effects of the drugAll AEDs have potential unwanted effects

COMMON AEDs

ValproateCarbamazepine/oxcarbazepineVigabatrinLamotrigineEthosuximideTopiramateGabapentinLevetriacetamClonazepam, diazepam

SPINAL MUSCULAR ATROPHY TYPE 1WERDNIG-HOFFMANN DISEASE

ACUTE POST-INFECTIOUS POLYNEUROPATHYGUILLAIN-BARRE

SYNDROME

MYASTHEMIA GRAVIS

DUCHENNE MUSCULAR DYSTROPHY

FRIEDRICH ATAXIA

ATAXIA TELAGIECTASIA

This disorder of DNA repairARGene ATM has been identifiedMild delay in motor development in infancyOculomotor problemsDifficulty with balance and coordination becoming evident at school ageDeterioration with a mixture of dystonia and cerebellar signsMany children require a wheelchairTelangiectasia develops in the conjunctiva, neck and shouldersIncreased susceptibility to infectionMalignant disorders – ALL

CEREBELLAR ATAXIA

CAUSES – MEDICATION, DRUGS, VARICELLA INFECTION, POSTERIOR FOSSA LESION OR TUMORS, GENETIC AND DEGENERATIVE DISORDERS e.g FRIEDRICH ATAXIA AND ATAXIA TELANGIECTASIA

EXTRADURAL HAEMORRHAGE

HEAD TRAUMASKULL FRACTUREARTERIAL OR VENOUS BLEEDING INTO THE EXTRADURAL SPACELUCID INTERVAL UNTIL THE CONSCIOUS LEVEL DETERIORATES, WITH SEIZURESFOCAL NEUROLOGICAL SIGNSDILATATION OF THE IPSILATERAL PUPILPARESIS OF THE CONTRALATERAL LIMPSCTEVACUATION OF THE HAEMATOMAARREST OF THE BLEEDING

SUBDURAL HAEMATOMA

THIS IS RESULTS FROM TEARING OF THE VEINS AS THEY CROSS THE SUBDURAL SPACESUBDURAL HAEMATOMA AND RETINAL HAEMORRHAGES IN AN INFANT – CONSIDER NON-ACCIDENTAL INJURY CAUSED BY SHAKING OR DIRECT TRAUMA

SUBARACHNOID HAEMORRHAGE

Much more common in adultsAcute onset of head painNeck stiffnessOccasionally feverCT scan – blood in CSFThe cause is often an aneurysm or AVMMR angiography, CT or convetional angiography

NEURAL TUBE DEFECTS

ANENCEPHALY

ANENCEPHALY

NEURAL TUBE DEFECTS

SPINA BIFIDA OCCULTA

HYDROCEPHALUS SETTING-SUN SIGN

VENTRICULOPERITONELA SHUNT FOR DRAINAGE

NEUROCUTANEUS SYNDROMES

NEUROFIBROMATOSISTUBEROUS SCLEROSISSTRUGE-WEBER SYNDROME

NF1

● This affects 1 in 3000 live birthsAD or new mutation6 or more cafe-au-lait spots > 5mm in size before puberty, >15mm after pubertyMore than one neurofibromaAxillary frecklesOptic gliomaOne Lisch nodule, a hamartoma of the iris (slit-lamp examination)Bony lesions from sphenoid dysplasiaA first degree relative with NF1

NF

TUBEROUS SCLEROSIS

THE CUTANEOUS FEATURES CONSIST OF:-DEPIGMENTED ASH LEAF-SHAPED PATCHES-SHAGREEN PATCHES-ANGIOFIBROMATANEUROLGICAL FEATURES-INFANTILE SPASM AND DEVELOPMENTAL DELAY-EPILEPSY

TUBEROUS SCLEROSIS

STURGE-WEBER SYNDROME

Sporadic disorder with a haemangiomatous facial lesion (a port-wine stain) in the distribution of the trigeminal nerve associated with a similar lesion intracranially.

CAUSES OF FLOPPY INFANT

CORTICAL – HYPOXIC-ISCHEMIC ENCEPHALOPATHYGENETIC – DOWN SYNDROME, PRADER-WILLI SYNDROMEMETABOLIC – HYPOTHYROIDISM, HYPOCALCAEMIANEUROMUSCULAR – SPINAL MUSCULAR ATROPHY, MYOPATHY, MYOTONIA, CONGENITAL MYASTHENIA

NEURODEGENERATIVE DISORDERS

TAY-SACHS DISEASEGAUCHER DISEASENIEMANN PICK DISEASEMUCOPOLYSACCHARIDOSES-MPSI = HURLER-MPSII = HUNTER-MPSIII = SANFILIPPO-MPSIV = MORQUIO-MPSVI = MAROTEAUX-LAMY

TAY-SACHS DISEASE

ENZYME DEFECT – HEXOSAMINIDASE AAR DISORDERMOST COMMON AMONG ASHKENAZIS JEWSDEVELOPMENTALREGRESSION IN LATE INFANCYSEVERE HYPOTONIA, ENLARGING HEADCHERRY RED SPOT AT THE MACULADEATH BY 2-5 YERSDIAGNOSIS MEASUREMENT OF THE SPECIFIC ENZYME ACTIVITYPRENEATL DETECTION IS POSSIBLE IN HIGH-RISK COUPLES

TAY-SACHS DISEASE

GAUCHER DISEASEENZYME DEFECT – BETA-GLUCOSIDASEOCCURS IN 1 IN 500 ASHKENAZIS JAWSCHRONIC CHILDHOOD FORM – SPLENOMEGALY, BONE MARROW SUPPRESSION, BONE INVOLVEMENT, NORMAL IQENZYME REPLACEMENT THERAPY IS AVAILABLEACUTE INFANTILE FORM – SPLENOMEGALY, NEUROLOGICAL DEGENERATION WITH SEIZURES

GAUCHER DISEASE

CLINICAL FEATURES OF MUCOPOLYSACCHARIDOSES

CLINICAL FEATURES OF MUCOPOLYSACCHARIDOSES

Corneal clouding, retinal degeneration, glaucomaThickened skinValvular lesion, cardic failureDevelopmental regressionThickened skull, broad ribs, thoracic kyphosis, lumbar lordosisHepatosplenomegalyConductive deafnessUmbilical and inguinal hernias

NIEMANN-PICK DISEASEENZYME DEFECT – SPHINGOMYELINASEAT 3-4 MONTHS, FEEDING DIFFICULTIES, HEPATOSPLENOMEGALY, DEVELOPMENTAL DELAY, HYPOTONIA AND DETERIORATION OF HEARING AND VISIONCHERRY RED SPOT IN MACULA AFFECT 50%

NIEMANN-PICK DISEASE

WILSON DISEASEFROM THE ACCUMULATION OF COPPER, MAY CAUSE CHANGES IN BEHAVIOUR AND ADDITIONAL INVOLUNTARY MOVEMENTS

OR A MIXTURE OF NEUROLOGICAL AND HEPATIC SYMPTOMS.